Sugi Variant

Sugi Variant/MRPS2

MRPS2 — 58 ClinVar variants

All ClinVar germline MRPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →

1 Likely pathogenic · 5 Conflicting · 3 Benign · 1 Benign/Likely benign · 21 Likely benign · 27 Uncertain significance

Full MRPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 27

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 19

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All MRPS2 variants

Likely pathogenic 1

  • p.Glu164Lys Single submitter combined oxidative phosphorylation deficiency 36

Conflicting classifications of pathogenicity 5

Benign 3

Benign/Likely benign 1

Likely benign 21

Uncertain significance 27